OUTDATED!
FOR ARCHIVE ONLY!
May 2013
FOR ARCHIVE ONLY!
May 2013
These
resources are especially for those interested in PJS & JPS - the diagnosed,
their friends, families, and health professionals. Please share this with any
and all. A list of Online Support Groups for people interested in inherited
cancer syndromes is at bottom of this email.
Warmest
healing wishes,
Stephanie
Sugars
pj4steph@aol.com
Jump to Newsletter
*****
INFORMATION
AND NEWS
* The fifth
Peutz-Jeghers Syndrome Meet & Greet was held on July 27,
2013 in Texas.
* A PJS information day was held in the
Erasmus MC in Rotterdam on 8 June, 2013.
* The
fourth Peutz-Jeghers Syndrome Meet & Greet was held in July 2012 in
Pennsylvania.
* The third
Peutz-Jeghers Syndrome Meet & Greet was held in Denver, Colorado
July 15,
2011. For a copy of the DVD, please contact Heidi at
* The
Summer 2011 issue of Familial Cancer journal focuses on
Peutz-Jeghers
syndrome. The issue includes an article by me,
Peutz-Jeghers
syndrome: a patient’s view. It can be purchased for
$34.95 at
Or read in
an unformatted version at
*
Peutz-Jeghers News blog by Stephanie Sugars
–
* How to
have a PJS-free baby. This is a report that I wrote for the
PJS Online
Support Group (http://listserv.acor.org/archives/pjs.html).
* 2012 PJS
and family planning: the attitude towards prenatal genetic testing and
pre-implantation genetic diagnosis
* Genetic
mosaicism has now been described in PJS people. This is something patients and
family members should discuss with genetic counselors…but they don't have the
information yet.
* 2013 GeneReviews PJS entry
and 2011 Juvenile Polyposis syndrome entry
Directories for genetic testing laboratories and clinics can be found at: http://www.genetests.org/
* 2013 eMedicine article on PJS and JPS
* 2013
Genetics Home Reference
Peutz-Jeghers
syndrome entry
* 2012 Juvenile
polyposis syndrome: a study of genotype, phenotype, and long-term outcome
free slide
presentation
* 2011
article about JPS - Juvenile polyposis syndrome
* 2010
article from 2007 conference of European PJS specialists
Peutz–Jeghers
syndrome: a systematic review and recommendations for Management
free full
text
* 2010 free
full text article includes PJS and Juvenile Polyposis
Syndrome -
Hereditary hamartomatous polyposis syndromes: understanding the disease risks
as children reach adulthood. by M. Manfredi
* 2008 50+
page report from Mayo Clinic on PJS,
appropriate
for patients, family, doctors and genetic counselors at
New 2010
addition on PJS in children and adolescents
* 2009
Juvenile Polyposis entry from Cancer Syndromes textbook
* 2009
Juvenile Polyposis syndrome entry from Genetics Home Reference
* 2009
screening guidelines for PJS and Juvenile Polyposis Syndrome
from National Comprehensive Cancer Network at
(free registration required).
* 2009 PJS
in the news. This story is about mice, not people. And no, these drugs aren't
currently available to PJS human patients, though there was a small trial of
them in Utah . And the suggested FDG-PET scans for screening have several
drawbacks including accuracy, expense & radiation exposure. Still, it's
interesting that mouse PJS polyps show increased glucose metabolism. The PJS
gene LKB1 affects both metabolism and cancer risk. Press release: http://www.eurekalert.org/pub_releases/2009-06/si-hc061209.php
Free full
text article: http://www.pnas.org/content/106/27/11137.long
* 2007
Medscape article on PJS, JPS & similar polyposis syndromes (free
registration required)
* 2006
Frequency and Spectrum of Cancers in the Peutz-Jeghers Syndrome.
* 2006
Peutz-Jeghers Syndrome and Management Recommendations. This
article
from Johns Hopkins includes suggested screening for PJS people
&
at-risk family members. Click on full-text pdf for free full text.
* There are
many new articles on PJS and the PJS gene LKB1 or STK11
available
at http://www.ncbi.nlm.nih.gov/pubmed
TREATMENT
OPTIONS
* Learn
more about the PillCam capsule endoscopy for small bowel
imaging and
find a physician in your region at www.givenimaging.com
*
Enteroscopy allows the entire small bowel to be scoped and replaces
major and
endoscopic surgery in some PJS patients. Interventional balloon enteroscopy at http://www.ncbi.nlm.nih.gov/pubmed/22586550
* Learn
more about double balloon enteroscopy, a new surgical method
and get
referrals to doctors who use it at www.fujinonendoscopy.com .
Learn more
about its use in adults at
and in
children at http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2799917/
* Olympus
has technologies for reaching and visualizing the small bowel including
endocapsule, spiral enteroscopy and single balloon enteroscopy. http://www.olympusamerica.com/msg_section/index.asp
GENETIC
TESTING
* The new
genetic test method, MLPA, has increased the accuracy of genetic testing for
PJS. Those with previously negative or inconclusive test results may wish to be
retested. Clinic and laboratory directories: http://www.ncbi.nlm.nih.gov/sites/GeneTests/?db=GeneTests
* Genetic
testing is available (no travel necessary) through Professor
Rodney
Scott, Division of Genetics, Hunter Area Pathology Services,
John Hunter
Hospital, Lookout Road, New Lambton, NSW 2305 Australia.
Check with
Dr. Scott for cost Rodney.Scott@newcastle.edu.au
TRIALS AND
STUDIES SEEKING PARTICIPANTS
* For PJS
patients with metastatic cancer, there’s a clinical trial of
everolimus
in the Netherlands.
A 2011
article about the use of everolimus in a patient with PJS and pancreatic cancer
by the investigators in the trial can be found at:
* Johns
Hopkins in Baltimore, MD has a pancreatic cancer screening
study
called CAPS4 that is open to PJS participants
* H. Lee
Moffitt Cancer Center in Tampa Florida also has a pancreatic
cancer
screening study
* Dr.
Stratakis continues to study PJS patients in Bethesda, MD, USA
ADDITIONAL
RESOURCES
* European
laboratories, research studies and information
* Many
free, full-text, old articles on PJS are available at
*************
ONLINE
SUPPORT GROUPS - INHERITED CANCER SYNDROMES
PJS &
Juvenile Polyposis syndrome- updated & revised listserv. The
affected,
family, friends, medical professionals and researchers are
welcome to
join the free online support group
http://listserv.acor.org/archives/pjs.html
If email volume is a
problem,
join digest mode for one daily email. Or
go nomail to search
the
archives as needed. If you'd like to join & need help, please write
Peutz-Jeghers
Syndrome Support – Facebook Group
Sindrome de
Peutz-Jeghers en Espanol
sindromedepeutzjeghers@googlegroups.com
Peutz-Jeghers
syndrome in China
Lynch
Syndrome or HNPCC
Gardner
syndrome
FAP/Gardner
syndrome
Li-Fraumeni
Colon
Cancer
Cowden/PTEN
Stephanie
Sugars
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